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Page 1
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R; ERN GENTURIS NF1 Tumour Management Guideline Group. Carton C, et al. Among authors: blanco i. EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb. EClinicalMedicine. 2023. PMID: 36684394 Free PMC article. Review.
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Catasús N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, Salvador H, Serra E, Blanco I, Castellanos E; NF2-related SWN Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. Among authors: blanco i. Mol Ther Nucleic Acids. 2022 Nov 4;30:493-505. doi: 10.1016/j.omtn.2022.10.026. eCollection 2022 Dec 13. Mol Ther Nucleic Acids. 2022. PMID: 36420221 Free PMC article.
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernández M, Requena G, Rosas I, Mazuelas H, Uriarte-Arrazola I, Negro A, Lausová T, Castellanos E, Blanco I, DeVries G, Kawashima H, Legius E, Brems H, Mautner V, Kluwe L, Ratner N, Wallace M, Fernández-Rodriguez J, Lázaro C, Fletcher JA, Reuss D, Carrió M, Gel B, Serra E. Magallón-Lorenz M, et al. Among authors: blanco i. iScience. 2023 Jan 31;26(2):106096. doi: 10.1016/j.isci.2023.106096. eCollection 2023 Feb 17. iScience. 2023. PMID: 36818284 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
European collaboration on genetic tumour risk syndromes.
Vetti HH, Blanco I, Menko FH. Vetti HH, et al. Among authors: blanco i. Eur J Med Genet. 2023 Feb;66(2):104691. doi: 10.1016/j.ejmg.2022.104691. Epub 2022 Dec 26. Eur J Med Genet. 2023. PMID: 36581153 No abstract available.
White hyperkeratotic plaque in a patient with infantile spasms.
Mora-Fernández V, Plana-Pla A, Quer A, Blanco I, Bielsa I. Mora-Fernández V, et al. Among authors: blanco i. Pediatr Dermatol. 2022 Nov;39(6):973-975. doi: 10.1111/pde.15104. Pediatr Dermatol. 2022. PMID: 36441000 No abstract available.
Monitoring SARS-CoV-2 variant transitions using differences in diagnostic cycle threshold values of target genes.
Bordoy AE, Saludes V, Panisello Yagüe D, Clarà G, Soler L, Paris de León A, Casañ C, Blanco-Suárez A, Guerrero-Murillo M, Rodríguez-Ponga B, Noguera-Julian M, Català-Moll F, Pey I, Armengol MP, Casadellà M, Parera M, Pluvinet R, Sumoy L, Clotet B, Giménez M, Martró E, Cardona PJ, Blanco I. Bordoy AE, et al. Among authors: blanco suarez a, blanco i. Sci Rep. 2022 Dec 17;12(1):21818. doi: 10.1038/s41598-022-25719-9. Sci Rep. 2022. PMID: 36528712 Free PMC article.
Triple Combination of MEK, BET, and CDK Inhibitors Significantly Reduces Human Malignant Peripheral Nerve Sheath Tumors in Mouse Models.
Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Zhang X, Creus-Bachiller E, Diazgranados AP, Uriarte-Arrazola I, Mazuelas H, Blanco I, Valverde C, Carrió M, Villanueva A, De Raedt T, Romagosa C, Gel B, Salvador H, Ferrer M, Lázaro C, Serra E. Ortega-Bertran S, et al. Among authors: blanco i. Clin Cancer Res. 2024 Dec 30. doi: 10.1158/1078-0432.CCR-24-2807. Online ahead of print. Clin Cancer Res. 2024. PMID: 39786423
Prognostic performance of early immune and endothelial activation markers in mild-to-moderate COVID-19 outpatients: a nested case-control study.
Alemany A, Balanza N, Millat-Martinez P, Ouchi D, Corbacho-Monné M, Morales-Indiano C, Fernández Rivas G, Blanco I, Mitjà O, Aguilar R, Dobaño C, Bassat Q, Moncunill G, Baro B; COnV-ert BMK STUDY GROUP. Alemany A, et al. Among authors: blanco i. Front Immunol. 2024 Nov 27;15:1501872. doi: 10.3389/fimmu.2024.1501872. eCollection 2024. Front Immunol. 2024. PMID: 39664394 Free PMC article.
704 results